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O76090

- BEST1_HUMAN

UniProt

O76090 - BEST1_HUMAN

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Protein
Bestrophin-1
Gene
BEST1, VMD2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.3 Publications

GO - Molecular functioni

  1. chloride channel activity Source: MGI

GO - Biological processi

  1. chloride transmembrane transport Source: GOC
  2. chloride transport Source: MGI
  3. detection of light stimulus involved in visual perception Source: Ensembl
  4. ion transmembrane transport Source: Reactome
  5. regulation of calcium ion transport Source: Ensembl
  6. transepithelial chloride transport Source: HGNC
  7. transmembrane transport Source: Reactome
  8. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Sensory transduction, Transport, Vision

Keywords - Ligandi

Calcium, Chloride

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.

Protein family/group databases

TCDBi1.A.46.1.1. the anion channel-forming bestrophin (bestrophin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Bestrophin-1
Alternative name(s):
TU15B
Vitelliform macular dystrophy protein 2
Gene namesi
Name:BEST1
Synonyms:VMD2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:12703. BEST1.

Subcellular locationi

Cell membrane; Multi-pass membrane protein. Basolateral cell membrane 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2525Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei26 – 4621Helical; Reviewed prediction
Add
BLAST
Topological domaini47 – 7024Extracellular Reviewed prediction
Add
BLAST
Transmembranei71 – 9121Helical; Reviewed prediction
Add
BLAST
Topological domaini92 – 17887Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei179 – 19921Helical; Reviewed prediction
Add
BLAST
Topological domaini200 – 22829Extracellular Reviewed prediction
Add
BLAST
Intramembranei229 – 24921 Reviewed prediction
Add
BLAST
Topological domaini250 – 27021Extracellular Reviewed prediction
Add
BLAST
Transmembranei271 – 29121Helical; Reviewed prediction
Add
BLAST
Topological domaini292 – 585294Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. basolateral plasma membrane Source: UniProtKB
  2. chloride channel complex Source: UniProtKB-KW
  3. cytosol Source: HGNC
  4. integral component of membrane Source: ProtInc
  5. membrane Source: ProtInc
  6. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Vitelliform macular dystrophy 2 (VMD2) [MIM:153700]: VMD2 is an autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.
Note: The disease is caused by mutations affecting the gene represented in this entry.17 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31I → T in VMD2. 1 Publication
VAR_058273
Natural varianti6 – 61T → P in VMD2 and AVMD. 2 Publications
Corresponds to variant rs28940275 [ dbSNP | Ensembl ].
VAR_000830
Natural varianti6 – 61T → R in VMD2.
VAR_017366
Natural varianti9 – 91V → A in VMD2.
VAR_000831
Natural varianti9 – 91V → M in VMD2.
Corresponds to variant rs28940276 [ dbSNP | Ensembl ].
VAR_000832
Natural varianti10 – 101A → T in VMD2.
VAR_000833
Natural varianti10 – 101A → V in VMD2. 1 Publication
VAR_010468
Natural varianti11 – 111N → I in VMD2. 1 Publication
VAR_017367
Natural varianti13 – 131R → H in VMD2. 1 Publication
VAR_010469
Natural varianti16 – 161S → F in VMD2. 1 Publication
VAR_010470
Natural varianti17 – 171F → C in VMD2. 1 Publication
VAR_010471
Natural varianti21 – 211L → V in VMD2.
VAR_000834
Natural varianti24 – 241W → C in VMD2.
VAR_000835
Natural varianti25 – 251R → Q in VMD2.
VAR_000836
Natural varianti25 – 251R → W in VMD2.
VAR_000837
Natural varianti26 – 261G → R in VMD2. 1 Publication
VAR_017368
Natural varianti27 – 271S → R in VMD2.
VAR_000838
Natural varianti29 – 291Y → H in VMD2. 1 Publication
VAR_017369
Natural varianti30 – 301K → R in VMD2.
VAR_017370
Natural varianti41 – 411L → P in VMD2 and ARB. 2 Publications
VAR_017371
Natural varianti58 – 581Q → L in VMD2.
VAR_000839
Natural varianti73 – 731I → N in VMD2. 1 Publication
VAR_010472
Natural varianti80 – 801F → L in VMD2.
VAR_017373
Natural varianti82 – 821L → V in VMD2. 2 Publications
VAR_010473
Natural varianti85 – 851Y → H in VMD2; loss of cloride and bicarbonate anions conduction. 2 Publications
Corresponds to variant rs28940274 [ dbSNP | Ensembl ].
VAR_000841
Natural varianti89 – 891V → A in VMD2. 1 Publication
VAR_017374
Natural varianti91 – 911T → I in VMD2.
VAR_017375
Natural varianti92 – 921R → C in VMD2; loss of cloride and bicarbonate anions conduction. 2 Publications
VAR_010474
Natural varianti92 – 921R → H in VMD2. 1 Publication
VAR_010475
Natural varianti92 – 921R → S in VMD2.
VAR_000842
Natural varianti93 – 931W → C in VMD2; loss of cloride and bicarbonate anions conduction. 3 Publications
Corresponds to variant rs28940273 [ dbSNP | Ensembl ].
VAR_000843
Natural varianti96 – 961Q → H in VMD2. 1 Publication
VAR_010476
Natural varianti99 – 991N → K in VMD2.
VAR_000844
Natural varianti100 – 1001L → R in VMD2.
VAR_000845
Natural varianti101 – 1011P → T in VMD2.
VAR_017376
Natural varianti102 – 1021W → R in VMD2. 1 Publication
VAR_017377
Natural varianti104 – 1041D → E in VMD2.
VAR_000846
Natural varianti104 – 1041D → H in VMD2. 1 Publication
VAR_017378
Natural varianti113 – 1131F → L in VMD2. 1 Publication
VAR_025732
Natural varianti133 – 1331N → K in VMD2.
VAR_017379
Natural varianti135 – 1351G → S in VMD2. 1 Publication
VAR_010478
Natural varianti140 – 1401L → R in VMD2.
VAR_017380
Natural varianti141 – 1411R → H in VMD2 and ARB; reduced whole-cell conductance. 1 Publication
Corresponds to variant rs121918284 [ dbSNP | Ensembl ].
VAR_000847
Natural varianti195 – 1951A → V in VMD2.
Corresponds to variant rs200277476 [ dbSNP | Ensembl ].
VAR_017381
Natural varianti201 – 2011I → T in VMD2. 1 Publication
VAR_025733
Natural varianti207 – 2071L → I in VMD2. 1 Publication
Corresponds to variant rs74653691 [ dbSNP | Ensembl ].
VAR_025734
Natural varianti209 – 2091S → N in VMD2.
VAR_000848
Natural varianti218 – 2181R → C in VMD2. 4 Publications
VAR_000849
Natural varianti218 – 2181R → H in VMD2. 1 Publication
VAR_010481
Natural varianti218 – 2181R → Q in VMD2.
VAR_000850
Natural varianti218 – 2181R → S in VMD2. 1 Publication
VAR_000851
Natural varianti221 – 2211C → W in VMD2. 1 Publication
VAR_025735
Natural varianti222 – 2221G → V in a family affected by Leber congenital amaurosis/VMD2. 1 Publication
VAR_025736
Natural varianti224 – 2241L → M in VMD2.
VAR_000852
Natural varianti224 – 2241L → P in VMD2. 1 Publication
VAR_025737
Natural varianti227 – 2271Y → N in VMD2. 2 Publications
Corresponds to variant rs28941469 [ dbSNP | Ensembl ].
VAR_000854
Natural varianti231 – 2311S → R in VMD2.
VAR_000855
Natural varianti235 – 2351V → L in VMD2. 1 Publication
VAR_010482
Natural varianti235 – 2351V → M in VMD2.
VAR_000856
Natural varianti237 – 2371T → R in VMD2.
VAR_000857
Natural varianti241 – 2411T → N in VMD2. 1 Publication
VAR_025738
Natural varianti242 – 2421V → M in VMD2; late-onset of visual disturbance. 1 Publication
VAR_058277
Natural varianti243 – 2431A → T in VMD2. 1 Publication
Corresponds to variant rs28940570 [ dbSNP | Ensembl ].
VAR_025739
Natural varianti243 – 2431A → V in VMD2 and AVMD. 1 Publication
Corresponds to variant rs28940570 [ dbSNP | Ensembl ].
VAR_000858
Natural varianti276 – 2761F → L in VMD2. 1 Publication
VAR_025741
Natural varianti293 – 2931Q → K in VMD2. 1 Publication
VAR_010483
Natural varianti294 – 2941L → V in VMD2. 1 Publication
VAR_025742
Natural varianti295 – 2951I → T in VMD2. 1 Publication
VAR_025743
Natural varianti295 – 2951Missing in VMD2.
VAR_000859
Natural varianti296 – 2961N → H in VMD2. 1 Publication
VAR_025744
Natural varianti296 – 2961N → S in VMD2. 1 Publication
VAR_010484
Natural varianti297 – 2971P → A in VMD2.
VAR_000860
Natural varianti297 – 2971P → S in VMD2. 2 Publications
Corresponds to variant rs1805143 [ dbSNP | Ensembl ].
VAR_010485
Natural varianti298 – 2981F → S in VMD2. 1 Publication
VAR_025745
Natural varianti299 – 2991G → A in VMD2. 1 Publication
VAR_058313
Natural varianti299 – 2991G → E in VMD2. 1 Publication
Corresponds to variant rs28941468 [ dbSNP | Ensembl ].
VAR_000861
Natural varianti300 – 3001E → D in VMD2. 3 Publications
Corresponds to variant rs1805144 [ dbSNP | Ensembl ].
VAR_010486
Natural varianti300 – 3001E → K in VMD2.
VAR_000862
Natural varianti301 – 3011D → E in VMD2. 1 Publication
VAR_000863
Natural varianti301 – 3011D → N in VMD2.
VAR_000864
Natural varianti302 – 3043Missing in VMD2.
VAR_058278
Natural varianti302 – 3021D → G in VMD2. 1 Publication
VAR_025746
Natural varianti302 – 3021D → H in VMD2. 1 Publication
VAR_025747
Natural varianti302 – 3021D → V in VMD2. 1 Publication
VAR_025748
Natural varianti303 – 3031D → E in VMD2. 1 Publication
VAR_025749
Natural varianti305 – 3051F → S in VMD2.
VAR_000865
Natural varianti306 – 3061E → D in VMD2. 1 Publication
VAR_025750
Natural varianti306 – 3061E → G in VMD2. 1 Publication
VAR_025751
Natural varianti307 – 3071T → A in VMD2. 1 Publication
VAR_025752
Natural varianti307 – 3071T → I in VMD2. 1 Publication
VAR_010487
Natural varianti308 – 3081N → S in VMD2. 1 Publication
VAR_025753
Natural varianti310 – 3101I → T in VMD2.
VAR_000866
Natural varianti311 – 3111V → G in VMD2.
VAR_000867
Retinitis pigmentosa 50 (RP50) [MIM:613194]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti140 – 1401L → V in RP50; causes protein mislocalization to the cytoplasm and reduction of channel activity. 1 Publication
VAR_063169
Natural varianti205 – 2051I → T in RP50; reduced channel activity. 1 Publication
VAR_063170
Natural varianti227 – 2271Y → C in RP50. 1 Publication
VAR_000853
Natural varianti228 – 2281D → N in RP50; causes protein mislocalization to the cytoplasm. 1 Publication
VAR_063171
Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]: A rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61T → P in VMD2 and AVMD. 2 Publications
Corresponds to variant rs28940275 [ dbSNP | Ensembl ].
VAR_000830
Natural varianti47 – 471R → H in AVMD.
Corresponds to variant rs28940278 [ dbSNP | Ensembl ].
VAR_017372
Natural varianti146 – 1461A → K in AVMD; sporadic; requires 2 nucleotide substitutions. 1 Publication
Corresponds to variant rs1800995 [ dbSNP | Ensembl ].
VAR_010479
Natural varianti243 – 2431A → V in VMD2 and AVMD. 1 Publication
Corresponds to variant rs28940570 [ dbSNP | Ensembl ].
VAR_000858
Natural varianti312 – 3121D → N in AVMD and ARB; causes protein mislocalization to the cytoplasm. 2 Publications
VAR_000868
Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]: A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411L → P in VMD2 and ARB. 2 Publications
VAR_017371
Natural varianti141 – 1411R → H in VMD2 and ARB; reduced whole-cell conductance. 1 Publication
Corresponds to variant rs121918284 [ dbSNP | Ensembl ].
VAR_000847
Natural varianti152 – 1521P → A in ARB; reduced whole-cell conductance. 1 Publication
VAR_043493
Natural varianti312 – 3121D → N in AVMD and ARB; causes protein mislocalization to the cytoplasm. 2 Publications
VAR_000868
Natural varianti317 – 3171V → M in ARB. 1 Publication
VAR_043494
Natural varianti325 – 3251M → T in ARB. 1 Publication
VAR_043495
Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM:193220]: A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti86 – 861V → M in ADVIRC. 1 Publication
VAR_058274
Natural varianti236 – 2361Y → C in ADVIRC. 1 Publication
VAR_058275
Natural varianti239 – 2391V → M in ADVIRC. 1 Publication
VAR_058276

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi153700. phenotype.
193220. phenotype.
608161. phenotype.
611809. phenotype.
613194. phenotype.
Orphaneti99000. Adult-onset foveomacular vitelliform dystrophy.
3086. Autosomal dominant vitreoretinochoroidopathy.
139455. Autosomal recessive bestrophinopathy.
1243. Best vitelliform macular dystrophy.
263347. MRCS syndrome.
791. Retinitis pigmentosa.
PharmGKBiPA162377454.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 585585Bestrophin-1
PRO_0000143114Add
BLAST

Post-translational modificationi

Phosphorylated by PP2A By similarity.

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO76090.
PRIDEiO76090.

PTM databases

PhosphoSiteiO76090.

Expressioni

Tissue specificityi

Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.

Gene expression databases

ArrayExpressiO76090.
BgeeiO76090.
CleanExiHS_BEST1.
GenevestigatoriO76090.

Interactioni

Subunit structurei

Tetramer or pentamers. May interact with PPP2CB and PPP2R1B By similarity.

Protein-protein interaction databases

BioGridi113279. 1 interaction.
MINTiMINT-239943.
STRINGi9606.ENSP00000301774.

Structurei

3D structure databases

ProteinModelPortaliO76090.

Family & Domainsi

Sequence similaritiesi

Belongs to the bestrophin family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG315004.
HOVERGENiHBG044928.
InParanoidiO76090.
KOiK13878.
OMAiRSGYHSA.
OrthoDBiEOG7N0C43.
PhylomeDBiO76090.
TreeFamiTF315803.

Family and domain databases

InterProiIPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view]
PANTHERiPTHR10736. PTHR10736. 1 hit.
PfamiPF01062. Bestrophin. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O76090-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MTITYTSQVA NARLGSFSRL LLCWRGSIYK LLYGEFLIFL LCYYIIRFIY    50
RLALTEEQQL MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL 100
PWPDRLMSLV SGFVEGKDEQ GRLLRRTLIR YANLGNVLIL RSVSTAVYKR 150
FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM FWVPWVWFAN LSMKAWLGGR 200
IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV TVAVYSFFLT 250
CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE 300
DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA 350
SAQFRRASFM GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD 400
HHPPRANSRT KLLWPKRESL LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV 450
DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP LEPSAPSKLH SVTGIDTKDK 500
SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN LTDMPEIPEN 550
HLKEPLEQSP TNIHTTLKDH MDPYWALENR DEAHS 585
Length:585
Mass (Da):67,684
Last modified:November 1, 1998 - v1
Checksum:iD0629AAF65BA1ACD
GO
Isoform 3 (identifier: O76090-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: Missing.
     581-585: DEAHS → SVLHLNQGHC...EDFLGPGEGR

Show »
Length:604
Mass (Da):69,096
Checksum:i4E105E710FC438BE
GO
Isoform 4 (identifier: O76090-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: Missing.
     290-316: Missing.

Show »
Length:498
Mass (Da):57,349
Checksum:iEB111B7121ADC566
GO

Sequence cautioni

The sequence BAH12234.1 differs from that shown. Reason: Erroneous initiation.
The sequence BAH13472.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31I → T in VMD2. 1 Publication
VAR_058273
Natural varianti6 – 61T → P in VMD2 and AVMD. 2 Publications
Corresponds to variant rs28940275 [ dbSNP | Ensembl ].
VAR_000830
Natural varianti6 – 61T → R in VMD2.
VAR_017366
Natural varianti9 – 91V → A in VMD2.
VAR_000831
Natural varianti9 – 91V → M in VMD2.
Corresponds to variant rs28940276 [ dbSNP | Ensembl ].
VAR_000832
Natural varianti10 – 101A → T in VMD2.
VAR_000833
Natural varianti10 – 101A → V in VMD2. 1 Publication
VAR_010468
Natural varianti11 – 111N → I in VMD2. 1 Publication
VAR_017367
Natural varianti13 – 131R → H in VMD2. 1 Publication
VAR_010469
Natural varianti16 – 161S → F in VMD2. 1 Publication
VAR_010470
Natural varianti17 – 171F → C in VMD2. 1 Publication
VAR_010471
Natural varianti21 – 211L → V in VMD2.
VAR_000834
Natural varianti24 – 241W → C in VMD2.
VAR_000835
Natural varianti25 – 251R → Q in VMD2.
VAR_000836
Natural varianti25 – 251R → W in VMD2.
VAR_000837
Natural varianti26 – 261G → R in VMD2. 1 Publication
VAR_017368
Natural varianti27 – 271S → R in VMD2.
VAR_000838
Natural varianti29 – 291Y → H in VMD2. 1 Publication
VAR_017369
Natural varianti30 – 301K → R in VMD2.
VAR_017370
Natural varianti41 – 411L → P in VMD2 and ARB. 2 Publications
VAR_017371
Natural varianti47 – 471R → H in AVMD.
Corresponds to variant rs28940278 [ dbSNP | Ensembl ].
VAR_017372
Natural varianti58 – 581Q → L in VMD2.
VAR_000839
Natural varianti67 – 671L → V.
VAR_000840
Natural varianti73 – 731I → N in VMD2. 1 Publication
VAR_010472
Natural varianti80 – 801F → L in VMD2.
VAR_017373
Natural varianti82 – 821L → V in VMD2. 2 Publications
VAR_010473
Natural varianti85 – 851Y → H in VMD2; loss of cloride and bicarbonate anions conduction. 2 Publications
Corresponds to variant rs28940274 [ dbSNP | Ensembl ].
VAR_000841
Natural varianti86 – 861V → M in ADVIRC. 1 Publication
VAR_058274
Natural varianti89 – 891V → A in VMD2. 1 Publication
VAR_017374
Natural varianti91 – 911T → I in VMD2.
VAR_017375
Natural varianti92 – 921R → C in VMD2; loss of cloride and bicarbonate anions conduction. 2 Publications
VAR_010474
Natural varianti92 – 921R → H in VMD2. 1 Publication
VAR_010475
Natural varianti92 – 921R → S in VMD2.
VAR_000842
Natural varianti93 – 931W → C in VMD2; loss of cloride and bicarbonate anions conduction. 3 Publications
Corresponds to variant rs28940273 [ dbSNP | Ensembl ].
VAR_000843
Natural varianti96 – 961Q → H in VMD2. 1 Publication
VAR_010476
Natural varianti99 – 991N → K in VMD2.
VAR_000844
Natural varianti100 – 1001L → R in VMD2.
VAR_000845
Natural varianti101 – 1011P → T in VMD2.
VAR_017376
Natural varianti102 – 1021W → R in VMD2. 1 Publication
VAR_017377
Natural varianti104 – 1041D → E in VMD2.
VAR_000846
Natural varianti104 – 1041D → H in VMD2. 1 Publication
VAR_017378
Natural varianti105 – 1051R → C in age-related macular degeneration. 1 Publication
VAR_025731
Natural varianti113 – 1131F → L in VMD2. 1 Publication
VAR_025732
Natural varianti119 – 1191E → Q in a sporadic case of concentric annular macular dystrophy.
Corresponds to variant rs1805142 [ dbSNP | Ensembl ].
VAR_010477
Natural varianti133 – 1331N → K in VMD2.
VAR_017379
Natural varianti135 – 1351G → S in VMD2. 1 Publication
VAR_010478
Natural varianti140 – 1401L → R in VMD2.
VAR_017380
Natural varianti140 – 1401L → V in RP50; causes protein mislocalization to the cytoplasm and reduction of channel activity. 1 Publication
VAR_063169
Natural varianti141 – 1411R → H in VMD2 and ARB; reduced whole-cell conductance. 1 Publication
Corresponds to variant rs121918284 [ dbSNP | Ensembl ].
VAR_000847
Natural varianti146 – 1461A → K in AVMD; sporadic; requires 2 nucleotide substitutions. 1 Publication
Corresponds to variant rs1800995 [ dbSNP | Ensembl ].
VAR_010479
Natural varianti152 – 1521P → A in ARB; reduced whole-cell conductance. 1 Publication
VAR_043493
Natural varianti195 – 1951A → V in VMD2.
Corresponds to variant rs200277476 [ dbSNP | Ensembl ].
VAR_017381
Natural varianti201 – 2011I → T in VMD2. 1 Publication
VAR_025733
Natural varianti205 – 2051I → T in RP50; reduced channel activity. 1 Publication
VAR_063170
Natural varianti207 – 2071L → I in VMD2. 1 Publication
Corresponds to variant rs74653691 [ dbSNP | Ensembl ].
VAR_025734
Natural varianti209 – 2091S → N in VMD2.
VAR_000848
Natural varianti216 – 2161T → I in a sporadic case of age-related macular degeneration.
VAR_010480
Natural varianti218 – 2181R → C in VMD2. 4 Publications
VAR_000849
Natural varianti218 – 2181R → H in VMD2. 1 Publication
VAR_010481
Natural varianti218 – 2181R → Q in VMD2.
VAR_000850
Natural varianti218 – 2181R → S in VMD2. 1 Publication
VAR_000851
Natural varianti221 – 2211C → W in VMD2. 1 Publication
VAR_025735
Natural varianti222 – 2221G → V in a family affected by Leber congenital amaurosis/VMD2. 1 Publication
VAR_025736
Natural varianti224 – 2241L → M in VMD2.
VAR_000852
Natural varianti224 – 2241L → P in VMD2. 1 Publication
VAR_025737
Natural varianti227 – 2271Y → C in RP50. 1 Publication
VAR_000853
Natural varianti227 – 2271Y → N in VMD2. 2 Publications
Corresponds to variant rs28941469 [ dbSNP | Ensembl ].
VAR_000854
Natural varianti228 – 2281D → N in RP50; causes protein mislocalization to the cytoplasm. 1 Publication
VAR_063171
Natural varianti231 – 2311S → R in VMD2.
VAR_000855
Natural varianti235 – 2351V → L in VMD2. 1 Publication
VAR_010482
Natural varianti235 – 2351V → M in VMD2.
VAR_000856
Natural varianti236 – 2361Y → C in ADVIRC. 1 Publication
VAR_058275
Natural varianti237 – 2371T → R in VMD2.
VAR_000857
Natural varianti239 – 2391V → M in ADVIRC. 1 Publication
VAR_058276
Natural varianti241 – 2411T → N in VMD2. 1 Publication
VAR_025738
Natural varianti242 – 2421V → M in VMD2; late-onset of visual disturbance. 1 Publication
VAR_058277
Natural varianti243 – 2431A → T in VMD2. 1 Publication
Corresponds to variant rs28940570 [ dbSNP | Ensembl ].
VAR_025739
Natural varianti243 – 2431A → V in VMD2 and AVMD. 1 Publication
Corresponds to variant rs28940570 [ dbSNP | Ensembl ].
VAR_000858
Natural varianti275 – 2751V → I in age-related macular degeneration. 1 Publication
VAR_025740
Natural varianti276 – 2761F → L in VMD2. 1 Publication
VAR_025741
Natural varianti293 – 2931Q → K in VMD2. 1 Publication
VAR_010483
Natural varianti294 – 2941L → V in VMD2. 1 Publication
VAR_025742
Natural varianti295 – 2951I → T in VMD2. 1 Publication
VAR_025743
Natural varianti295 – 2951Missing in VMD2.
VAR_000859
Natural varianti296 – 2961N → H in VMD2. 1 Publication
VAR_025744
Natural varianti296 – 2961N → S in VMD2. 1 Publication
VAR_010484
Natural varianti297 – 2971P → A in VMD2.
VAR_000860
Natural varianti297 – 2971P → S in VMD2. 2 Publications
Corresponds to variant rs1805143 [ dbSNP | Ensembl ].
VAR_010485
Natural varianti298 – 2981F → S in VMD2. 1 Publication
VAR_025745
Natural varianti299 – 2991G → A in VMD2. 1 Publication
VAR_058313
Natural varianti299 – 2991G → E in VMD2. 1 Publication
Corresponds to variant rs28941468 [ dbSNP | Ensembl ].
VAR_000861
Natural varianti300 – 3001E → D in VMD2. 3 Publications
Corresponds to variant rs1805144 [ dbSNP | Ensembl ].
VAR_010486
Natural varianti300 – 3001E → K in VMD2.
VAR_000862
Natural varianti301 – 3011D → E in VMD2. 1 Publication
VAR_000863
Natural varianti301 – 3011D → N in VMD2.
VAR_000864
Natural varianti302 – 3043Missing in VMD2.
VAR_058278
Natural varianti302 – 3021D → G in VMD2. 1 Publication
VAR_025746
Natural varianti302 – 3021D → H in VMD2. 1 Publication
VAR_025747
Natural varianti302 – 3021D → V in VMD2. 1 Publication
VAR_025748
Natural varianti303 – 3031D → E in VMD2. 1 Publication
VAR_025749
Natural varianti305 – 3051F → S in VMD2.
VAR_000865
Natural varianti306 – 3061E → D in VMD2. 1 Publication
VAR_025750
Natural varianti306 – 3061E → G in VMD2. 1 Publication
VAR_025751
Natural varianti307 – 3071T → A in VMD2. 1 Publication
VAR_025752
Natural varianti307 – 3071T → I in VMD2. 1 Publication
VAR_010487
Natural varianti308 – 3081N → S in VMD2. 1 Publication
VAR_025753
Natural varianti310 – 3101I → T in VMD2.
VAR_000866
Natural varianti311 – 3111V → G in VMD2.
VAR_000867
Natural varianti312 – 3121D → N in AVMD and ARB; causes protein mislocalization to the cytoplasm. 2 Publications
VAR_000868
Natural varianti317 – 3171V → M in ARB. 1 Publication
VAR_043494
Natural varianti325 – 3251M → T in ARB. 1 Publication
VAR_043495
Natural varianti357 – 3571A → V.1 Publication
Corresponds to variant rs17854138 [ dbSNP | Ensembl ].
VAR_043496
Natural varianti525 – 5251E → A.1 Publication
Corresponds to variant rs200582915 [ dbSNP | Ensembl ].
VAR_010488
Natural varianti557 – 5571E → K.1 Publication
VAR_010489
Natural varianti561 – 5611T → A.1 Publication
VAR_010490
Natural varianti567 – 5671L → F in a sporadic case of age-related macular degeneration; unknown pathological significance.
Corresponds to variant rs148060787 [ dbSNP | Ensembl ].
VAR_010491
Natural varianti578 – 5781E → V.
Corresponds to variant rs1800010 [ dbSNP | Ensembl ].
VAR_009278

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6060Missing in isoform 3 and isoform 4.
VSP_008973Add
BLAST
Alternative sequencei290 – 31627Missing in isoform 4.
VSP_008975Add
BLAST
Alternative sequencei581 – 5855DEAHS → SVLHLNQGHCIALCPTPASL ALSLPFLHNFLGFHHCQSTL DLRPALAWGIYLATFTGILG KCSGPFLTSPWYHPEDFLGP GEGR in isoform 3.
VSP_008974

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF073500
, AF073491, AF073492, AF073493, AF073494, AF073495, AF073496, AF073497, AF073498, AF073499 Genomic DNA. Translation: AAC64926.1.
AF057169 mRNA. Translation: AAC64343.1.
AF057170 mRNA. Translation: AAC64344.1.
AF073501 mRNA. Translation: AAC33766.1.
AY515704 mRNA. Translation: AAR99654.1.
CH471076 Genomic DNA. Translation: EAW73982.1.
CH471076 Genomic DNA. Translation: EAW73985.1.
BC015220 mRNA. Translation: AAH15220.1.
BC041664 mRNA. Translation: AAH41664.1.
AK289681 mRNA. Translation: BAF82370.1.
AK295998 mRNA. Translation: BAH12234.1. Different initiation.
AK301392 mRNA. Translation: BAH13472.1. Different initiation.
CCDSiCCDS31580.1. [O76090-1]
CCDS44623.1. [O76090-3]
RefSeqiNP_001132915.1. NM_001139443.1. [O76090-3]
NP_004174.1. NM_004183.3. [O76090-1]
XP_005274270.1. XM_005274213.1.
XP_005274272.1. XM_005274215.1.
UniGeneiHs.524910.
Hs.712676.

Genome annotation databases

EnsembliENST00000378042; ENSP00000367281; ENSG00000167995. [O76090-4]
ENST00000378043; ENSP00000367282; ENSG00000167995. [O76090-1]
ENST00000449131; ENSP00000399709; ENSG00000167995. [O76090-3]
ENST00000524926; ENSP00000432681; ENSG00000167995.
GeneIDi7439.
KEGGihsa:7439.
UCSCiuc001nsr.2. human. [O76090-3]
uc001nss.3. human. [O76090-1]
uc001nst.3. human. [O76090-4]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

VMD2 mutation database
Mutations of the VMD2 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF073500
, AF073491 , AF073492 , AF073493 , AF073494 , AF073495 , AF073496 , AF073497 , AF073498 , AF073499 Genomic DNA. Translation: AAC64926.1 .
AF057169 mRNA. Translation: AAC64343.1 .
AF057170 mRNA. Translation: AAC64344.1 .
AF073501 mRNA. Translation: AAC33766.1 .
AY515704 mRNA. Translation: AAR99654.1 .
CH471076 Genomic DNA. Translation: EAW73982.1 .
CH471076 Genomic DNA. Translation: EAW73985.1 .
BC015220 mRNA. Translation: AAH15220.1 .
BC041664 mRNA. Translation: AAH41664.1 .
AK289681 mRNA. Translation: BAF82370.1 .
AK295998 mRNA. Translation: BAH12234.1 . Different initiation.
AK301392 mRNA. Translation: BAH13472.1 . Different initiation.
CCDSi CCDS31580.1. [O76090-1 ]
CCDS44623.1. [O76090-3 ]
RefSeqi NP_001132915.1. NM_001139443.1. [O76090-3 ]
NP_004174.1. NM_004183.3. [O76090-1 ]
XP_005274270.1. XM_005274213.1.
XP_005274272.1. XM_005274215.1.
UniGenei Hs.524910.
Hs.712676.

3D structure databases

ProteinModelPortali O76090.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113279. 1 interaction.
MINTi MINT-239943.
STRINGi 9606.ENSP00000301774.

Protein family/group databases

TCDBi 1.A.46.1.1. the anion channel-forming bestrophin (bestrophin) family.

PTM databases

PhosphoSitei O76090.

Proteomic databases

PaxDbi O76090.
PRIDEi O76090.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378042 ; ENSP00000367281 ; ENSG00000167995 . [O76090-4 ]
ENST00000378043 ; ENSP00000367282 ; ENSG00000167995 . [O76090-1 ]
ENST00000449131 ; ENSP00000399709 ; ENSG00000167995 . [O76090-3 ]
ENST00000524926 ; ENSP00000432681 ; ENSG00000167995 .
GeneIDi 7439.
KEGGi hsa:7439.
UCSCi uc001nsr.2. human. [O76090-3 ]
uc001nss.3. human. [O76090-1 ]
uc001nst.3. human. [O76090-4 ]

Organism-specific databases

CTDi 7439.
GeneCardsi GC11P061717.
GeneReviewsi BEST1.
H-InvDB HIX0036211.
HGNCi HGNC:12703. BEST1.
MIMi 153700. phenotype.
193220. phenotype.
607854. gene.
608161. phenotype.
611809. phenotype.
613194. phenotype.
neXtProti NX_O76090.
Orphaneti 99000. Adult-onset foveomacular vitelliform dystrophy.
3086. Autosomal dominant vitreoretinochoroidopathy.
139455. Autosomal recessive bestrophinopathy.
1243. Best vitelliform macular dystrophy.
263347. MRCS syndrome.
791. Retinitis pigmentosa.
PharmGKBi PA162377454.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG315004.
HOVERGENi HBG044928.
InParanoidi O76090.
KOi K13878.
OMAi RSGYHSA.
OrthoDBi EOG7N0C43.
PhylomeDBi O76090.
TreeFami TF315803.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSi BEST1. human.
GeneWikii Bestrophin_1.
GenomeRNAii 7439.
NextBioi 29132.
PROi O76090.
SOURCEi Search...

Gene expression databases

ArrayExpressi O76090.
Bgeei O76090.
CleanExi HS_BEST1.
Genevestigatori O76090.

Family and domain databases

InterProi IPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view ]
PANTHERi PTHR10736. PTHR10736. 1 hit.
Pfami PF01062. Bestrophin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)."
    Marquardt A., Stoehr H., Passmore L.A., Kraemer F., Rivera A., Weber B.H.F.
    Hum. Mol. Genet. 7:1517-1525(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VMD2.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS VMD2 PRO-6; HIS-85; CYS-93; ASN-227 AND GLU-299.
  3. "Structure-function analysis of the bestrophin family of anion channels."
    Tsunenari T., Sun H., Williams J., Cahill H., Smallwood P., Yau K.-W., Nathans J.
    J. Biol. Chem. 278:41114-41125(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TOPOLOGY.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), VARIANT VAL-357.
    Tissue: Brain.
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 52-585 (ISOFORM 1).
    Tissue: Amygdala, Subthalamic nucleus and Synovium.
  7. "The vitelliform macular dystrophy protein defines a new family of chloride channels."
    Sun H., Tsunenari T., Yau K.-W., Nathans J.
    Proc. Natl. Acad. Sci. U.S.A. 99:4008-4013(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. "Bestrophin Cl- channels are highly permeable to HCO3-."
    Qu Z., Hartzell H.C.
    Am. J. Physiol. 294:C1371-C1377(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CHARACTERIZATION OF VARIANTS VMD2 HIS-85; CYS-92 AND CYS-93.
  9. Cited for: SUBCELLULAR LOCATION, VARIANTS RP50 VAL-140; THR-205; CYS-227 AND ASN-228, CHARACTERIZATION OF VARIANTS RP50 VAL-140; THR-205 AND ASN-228, CHARACTERIZATION OF VARIANT ARB ASN-312.
  10. Cited for: VARIANTS VMD2 HIS-13; CYS-93; CYS-218; ASP-300; GLU-301 AND ILE-307.
  11. Cited for: VARIANTS VMD2 VAL-10; VAL-82; CYS-92; HIS-96; SER-135; CYS-218; SER-218 AND LYS-293.
  12. "Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies."
    Allikmets R., Seddon J.M., Bernstein P.S., Hutchinson A., Atkinson A., Sharma S., Gerrard B., Li W., Metzker M.L., Wadelius C., Caskey C.T., Dean M., Petrukhin K.
    Hum. Genet. 104:449-453(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VMD2 SER-297 AND ASP-300, VARIANT AVMD LYS-146, VARIANTS GLN-119; ILE-216; ALA-525; LYS-557; ALA-561 AND PHE-567.
  13. "A novel spontaneous missense mutation in VMD2 gene is a cause of a Best macular dystrophy sporadic case."
    Palomba G., Rozzo C., Angius A., Pierrottet C.O., Orzalesi N., Pirastu M.
    Am. J. Ophthalmol. 129:260-262(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VMD2 TRP-221.
  14. Cited for: VARIANT VAL-222.
  15. "Allelic variation in the VMD2 gene in best disease and age-related macular degeneration."
    Lotery A.J., Munier F.L., Fishman G.A., Weleber R.G., Jacobson S.G., Affatigato L.M., Nichols B.E., Schorderet D.F., Sheffield V.C., Stone E.M.
    Invest. Ophthalmol. Vis. Sci. 41:1291-1296(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AGE-RELATED MACULAR DEGENERATION CYS-105 AND ILE-275, VARIANTS VMD2 THR-201; ILE-207; PRO-224; THR-243; LEU-276; HIS-296; GLY-302; VAL-302; ASP-306; GLY-306 AND ALA-307.
  16. Cited for: VARIANTS VMD2 PHE-16; CYS-17; ASN-73; HIS-92; CYS-218; HIS-218; LEU-235 AND SER-296.
  17. "Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene."
    Eksandh L., Bakall B., Bauer B., Wadelius C., Andreasson S.
    Ophthalmic Genet. 22:107-115(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VMD2 ALA-89.
  18. "Identification of a novel VMD2 mutation in Japanese patients with Best disease."
    Yanagi Y., Sekine H., Mori M.
    Ophthalmic Genet. 23:129-133(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VMD2 THR-295.
  19. "Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy."
    Marchant D., Gogat K., Dureau P., Sainton K., Sternberg C., Gadin S., Dollfus H., Brasseur G., Hache J.C., Dumur V., Puech V., Munier F.L., Schorderet D.F., Marsac C., Menasche M., Dufier J.-L., Abitbol M.
    Ophthalmic Genet. 23:167-174(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VMD2 HIS-302; GLU-303 AND SER-308.
  20. "Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)."
    Kraemer F., Mohr N., Kellner U., Rudolph G., Weber B.H.F.
    Hum. Mutat. 22:418-418(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VMD2 ILE-11; ARG-26; HIS-29; PRO-41; ARG-102; HIS-104; ASN-241; VAL-294 AND SER-298.
  21. Cited for: VARIANTS VMD2 SER-297 AND ASP-300.
  22. "Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2)."
    Li Y., Wang G.L., Dong B.
    Hum. Genet. 114:608-608(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VMD2 LEU-113.
  23. Cited for: VARIANTS ADVIRC MET-86; CYS-236 AND MET-239.
  24. Cited for: VARIANTS ARB PRO-41; HIS-141; ALA-152; ASN-312; MET-317 AND THR-325, CHARACTERIZATION OF VARIANTS ARB HIS-141 AND ALA-152.
  25. Cited for: VARIANTS VMD2 CYS-218 AND MET-242.
  26. "Clinical and molecular genetic analysis of Best vitelliform macular dystrophy."
    Boon C.J.F., Theelen T., Hoefsloot E.H., van Schooneveld M.J., Keunen J.E.E., Cremers F.P.M., Klevering B.J., Hoyng C.B.
    Retina 29:835-847(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS VMD2 THR-3; PRO-6; VAL-82; ASN-227; VAL-243; ALA-299 AND 302-ASP--ASP-304 DEL.

Entry informationi

Entry nameiBEST1_HUMAN
AccessioniPrimary (citable) accession number: O76090
Secondary accession number(s): A8K0W6
, B7Z3J8, B7Z736, O75904, Q53YQ9, Q8IUR9, Q8IZ80
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1998
Last modified: September 3, 2014
This is version 143 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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